Neurology
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Published online before print December 3, 2008, doi:10.1212/01.wnl.0000336370.51010.a1)
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Received April 24, 2008
Accepted August 29, 2008

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

J. D. England MD, G. S. Gronseth MD, FAAN, G. Franklin MD, G. T. Carter MD, L. J. Kinsella MD, J. A. Cohen MD, A. K. Asbury MD, K. Szigeti MD, PhD, J. R. Lupski MD, PhD, N. Latov MD, R. A. Lewis MD, P. A. Low MD, M. A. Fisher MD, D. N. Herrmann MD, J. F. Howard Jr MD, G. Lauria MD, R. G. Miller MD, M. Polydefkis MD, MHS, and A. J. Sumner MD

From the Louisiana State University Health Sciences Center (J.D.E., A.J.S.), New Orleans; University of Kansas (G.S.G.), Kansas City; University of Washington (G.F.), Seattle; Providence Health System (G.T.C.), Southwest Washington; St. Louis University School of Medicine (L.J.K.), St. Louis, MO; Dartmouth Hitchcock Medical Center (J.A.C.), Lebanon, NH; University of Pennsylvania School of Medicine (A.K.A.), Philadelphia; Baylor College of Medicine (K.S., J.R.L.), Houston, TX; Weill Medical College of Cornell (N.L.), New York, NY; Wayne State University School of Medicine (R.A.L.), Detroit, MI; Mayo Clinic (P.A.L.), Rochester, MN; Loyola University Chicago Stritch School of Medicine and the Hines VAH (M.A.F.), IL; University of Rochester Medical Center (D.H.), NY; University of North Carolina (J.F.H.), Chapel Hill; Fondazione IRCCS National Neurological Institute "Carlo Besta" (G.L.), Milan, Italy; California Pacific Medical Center (R.G.M.), San Francisco; and Johns Hopkins Medical Institutions (M.P.), Baltimore, MD.


Background: Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP.

Methods: A literature review using MEDLINE, EMBASE, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based upon the level of evidence.

Results and Recommendations: 1) Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B12 with metabolites (methylmalonic acid with or without homocysteine), and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). 2) Genetic testing should be conducted for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic features and should focus on the most common abnormalities which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).


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Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation
J. D. England, G. S. Gronseth, G. Franklin, G. T. Carter, L. J. Kinsella, J. A. Cohen, A. K. Asbury, K. Szigeti, J. R. Lupski, N. Latov, R. A. Lewis, P. A. Low, M. A. Fisher, D. N. Herrmann, J. F. Howard, Jr, G. Lauria, R. G. Miller, M. Polydefkis, and A. J. Sumner
Neurology 2009 72: 177-184. [Abstract] [Full Text] [PDF]





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